Canonical Allele Identifier: CA2664403083

Gene: VHL

Linked Data

• gnomAD v4: 3-10146576-T-TAGGTCAGGGGAAATGGAGAAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.10146576_10146577insAGGTCAGGGGAAATGGAGAAAA , CM000665.2:g.10146576_10146577insAGGTCAGGGGAAATGGAGAAAA	GRCh38
NC_000003.11:g.10188260_10188261insAGGTCAGGGGAAATGGAGAAAA , CM000665.1:g.10188260_10188261insAGGTCAGGGGAAATGGAGAAAA	GRCh37
NC_000003.10:g.10163260_10163261insAGGTCAGGGGAAATGGAGAAAA	NCBI36
NG_008212.3:g.9942_9943insAGGTCAGGGGAAATGGAGAAAA , LRG_322:g.9942_9943insAGGTCAGGGGAAATGGAGAAAA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696142.1:c.*80_*81insAGGTCAGGGGAAATGGAGAAAA	ENSP00000512434.1:n.*80_*81insAGGTCAGGGGAAATGGAGAAAA
ENST00000696143.1:c.600-3211_600-3210insAGGTCAGGGGAAATGGAGAAAA	ENSP00000512435.1:n.600-3211_600-3210insAGGTCAGGGGAAATGGAGAAA...
ENST00000696153.1:c.403_404insAGGTCAGGGGAAATGGAGAAAA	ENSP00000512444.1:p.Leu135Ter
ENST00000256474.3:c.403_404insAGGTCAGGGGAAATGGAGAAAA MANE Select	ENSP00000256474.3:p.Leu135Ter
ENST00000256474.2:c.403_404insAGGTCAGGGGAAATGGAGAAAA	ENSP00000256474.2:p.Leu135Ter
ENST00000345392.2:c.341-3211_341-3210insAGGTCAGGGGAAATGGAGAAAA	ENSP00000344757.2:n.341-3211_341-3210insAGGTCAGGGGAAATGGAGAAA...
ENST00000477538.1:n.539_540insAGGTCAGGGGAAATGGAGAAAA
NM_000551.3:c.403_404insAGGTCAGGGGAAATGGAGAAAA , LRG_322t1:c.403_404insAGGTCAGGGGAAATGGAGAAAA	NP_000542.1:p.Leu135Ter
NM_198156.2:c.341-3211_341-3210insAGGTCAGGGGAAATGGAGAAAA	NP_937799.1:n.341-3211_341-3210insAGGTCAGGGGAAATGGAGAAAA
XM_011534078.1:c.*80_*81insAGGTCAGGGGAAATGGAGAAAA	XP_011532380.1:n.*80_*81insAGGTCAGGGGAAATGGAGAAAA
NM_001354723.1:c.*18-3211_*18-3210insAGGTCAGGGGAAATGGAGAAAA	NP_001341652.1:n.*18-3211_*18-3210insAGGTCAGGGGAAATGGAGAAAA
NM_000551.4:c.403_404insAGGTCAGGGGAAATGGAGAAAA MANE Select	NP_000542.1:p.Leu135Ter
NM_001354723.2:c.*18-3211_*18-3210insAGGTCAGGGGAAATGGAGAAAA	NP_001341652.1:n.*18-3211_*18-3210insAGGTCAGGGGAAATGGAGAAAA
NM_198156.3:c.341-3211_341-3210insAGGTCAGGGGAAATGGAGAAAA	NP_937799.1:n.341-3211_341-3210insAGGTCAGGGGAAATGGAGAAAA